000 | 02176 a2200685 4500 | ||
---|---|---|---|
005 | 20250516212851.0 | ||
264 | 0 | _c20150330 | |
008 | 201503s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.22590 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDiodato, Daria | |
245 | 0 | 0 |
_aVARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. _h[electronic resource] |
260 |
_bHuman mutation _cAug 2014 |
||
300 |
_a983-9 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aCell Line |
650 | 0 | 4 | _aChild |
650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
650 | 0 | 4 |
_aElectron Transport Complex I _xgenetics |
650 | 0 | 4 |
_aFibroblasts _xcytology |
650 | 0 | 4 |
_aHLA Antigens _xgenetics |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIsoenzymes _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMitochondria _xenzymology |
650 | 0 | 4 |
_aMitochondrial Encephalomyopathies _xenzymology |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPolymorphism, Genetic |
650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
650 | 0 | 4 |
_aRNA, Transfer, Thr _xgenetics |
650 | 0 | 4 |
_aRNA, Transfer, Val _xgenetics |
650 | 0 | 4 |
_aSaccharomyces cerevisiae _xgenetics |
650 | 0 | 4 |
_aThreonine-tRNA Ligase _xgenetics |
650 | 0 | 4 |
_aValine-tRNA Ligase _xgenetics |
700 | 1 | _aMelchionda, Laura | |
700 | 1 | _aHaack, Tobias B | |
700 | 1 | _aDallabona, Cristina | |
700 | 1 | _aBaruffini, Enrico | |
700 | 1 | _aDonnini, Claudia | |
700 | 1 | _aGranata, Tiziana | |
700 | 1 | _aRagona, Francesca | |
700 | 1 | _aBalestri, Paolo | |
700 | 1 | _aMargollicci, Maria | |
700 | 1 | _aLamantea, Eleonora | |
700 | 1 | _aNasca, Alessia | |
700 | 1 | _aPowell, Christopher A | |
700 | 1 | _aMinczuk, Michal | |
700 | 1 | _aStrom, Tim M | |
700 | 1 | _aMeitinger, Thomas | |
700 | 1 | _aProkisch, Holger | |
700 | 1 | _aLamperti, Costanza | |
700 | 1 | _aZeviani, Massimo | |
700 | 1 | _aGhezzi, Daniele | |
773 | 0 |
_tHuman mutation _gvol. 35 _gno. 8 _gp. 983-9 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22590 _zAvailable from publisher's website |
999 |
_c23824776 _d23824776 |